Mutagenetix > Incidental Mutation

Incidental Mutation 'R7440:Acadm'

576875

Institutional Source

Beutler Lab

Gene Symbol

Acadm

Ensembl Gene

ENSMUSG00000062908

Gene Name

acyl-Coenzyme A dehydrogenase, medium chain

Synonyms

MCAD

MMRRC Submission

045516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153922357-153944632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153922989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 403 (T403I)

Ref Sequence

ENSEMBL: ENSMUSP00000072483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072697]

AlphaFold

P45952

Predicted Effect

probably damaging
Transcript: ENSMUST00000072697
AA Change: T403I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: T403I

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	42	152	2e-27	PFAM
Pfam:Acyl-CoA_dh_M	157	255	2.3e-26	PFAM
Pfam:Acyl-CoA_dh_1	267	416	1.7e-48	PFAM
Pfam:Acyl-CoA_dh_2	283	405	2.1e-19	PFAM

Meta Mutation Damage Score

0.9740

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C6- and C12-acylCoA. In mice, deficiency of this gene can cause neonatal mortality as well as fasting and cold intolerance. This gene has multiple, intronless pseudogenes. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	A	G	9: 50,764,913 (GRCm38)	V35A	probably benign	Het
9230104L09Rik	A	C	2: 148,846,991 (GRCm38)	C109W	probably damaging	Het
Adat1	A	T	8: 111,989,898 (GRCm38)	M64K	probably damaging	Het
Adcy2	C	T	13: 68,796,667 (GRCm38)	V199M	probably damaging	Het
Ankrd13a	T	C	5: 114,803,575 (GRCm38)	S508P	possibly damaging	Het
Ap1g1	T	A	8: 109,802,724 (GRCm38)		probably null	Het
Bicral	C	T	17: 46,825,784 (GRCm38)	G167R	probably damaging	Het
Ccser2	T	C	14: 36,898,217 (GRCm38)	K727E	possibly damaging	Het
Cep350	T	G	1: 155,940,772 (GRCm38)	K332N	probably damaging	Het
Chd5	A	G	4: 152,384,651 (GRCm38)	N1811S	probably benign	Het
Chpf	A	T	1: 75,475,601 (GRCm38)	V565D	probably damaging	Het
Clcn6	A	T	4: 148,014,195 (GRCm38)	L489H	probably damaging	Het
Cntln	C	A	4: 85,063,216 (GRCm38)	T877K	possibly damaging	Het
Cog4	T	C	8: 110,879,706 (GRCm38)	V630A	probably benign	Het
Col6a5	G	T	9: 105,881,431 (GRCm38)	S2192*	probably null	Het
Cry2	G	A	2: 92,413,638 (GRCm38)	R397W	probably damaging	Het
Cyp1b1	T	C	17: 79,713,557 (GRCm38)	N252S	probably damaging	Het
Dhx9	T	C	1: 153,481,231 (GRCm38)	I91V	probably benign	Het
Dnajb6	G	A	5: 29,757,859 (GRCm38)	A256T	possibly damaging	Het
Epm2a	T	G	10: 11,390,875 (GRCm38)	Y121*	probably null	Het
Erlec1	T	C	11: 30,950,818 (GRCm38)	I117V	possibly damaging	Het
Exoc8	T	C	8: 124,895,781 (GRCm38)	M616V	probably benign	Het
Fmn1	A	T	2: 113,441,611 (GRCm38)	Q108L	unknown	Het
Fuz	T	C	7: 44,896,572 (GRCm38)	L46P	probably damaging	Het
Gm15319	C	T	8: 20,356,948 (GRCm38)	S254N	unknown	Het
Insc	T	C	7: 114,845,043 (GRCm38)	S422P	possibly damaging	Het
Intu	A	G	3: 40,697,551 (GRCm38)	I813V	probably benign	Het
Jak3	T	A	8: 71,680,718 (GRCm38)	S352T	probably benign	Het
Klf11	T	C	12: 24,655,491 (GRCm38)	S315P	probably benign	Het
Lrrc63	T	C	14: 75,121,013 (GRCm38)	N400D	possibly damaging	Het
Lrrk1	T	C	7: 66,290,854 (GRCm38)	D760G	probably damaging	Het
Macf1	A	T	4: 123,455,446 (GRCm38)	L3976*	probably null	Het
Map7	C	T	10: 20,261,859 (GRCm38)	A259V	probably damaging	Het
Meioc	T	A	11: 102,674,237 (GRCm38)	D170E	possibly damaging	Het
Mgat5b	T	A	11: 116,968,445 (GRCm38)	Y34*	probably null	Het
Mgst1	A	G	6: 138,150,844 (GRCm38)	K68R	probably benign	Het
Miga1	T	A	3: 152,338,046 (GRCm38)		probably null	Het
Mrps33	G	A	6: 39,802,479 (GRCm38)	P94L	probably damaging	Het
Ncapg2	G	T	12: 116,450,413 (GRCm38)	G1068C	possibly damaging	Het
Ndufaf7	C	T	17: 78,942,117 (GRCm38)	H148Y	probably damaging	Het
Nkx6-3	A	T	8: 23,153,754 (GRCm38)	D57V	probably damaging	Het
Nlrp1a	T	C	11: 71,092,324 (GRCm38)	D1272G	probably damaging	Het
Oit3	T	C	10: 59,429,570 (GRCm38)	N291S	probably damaging	Het
Olfr362	A	T	2: 37,105,169 (GRCm38)	H160Q	possibly damaging	Het
Pld1	T	G	3: 28,041,270 (GRCm38)	S251A	probably benign	Het
Ppfibp1	T	C	6: 147,019,503 (GRCm38)	S580P	probably benign	Het
Prdx6b	A	T	2: 80,293,216 (GRCm38)	D123V	probably damaging	Het
Ptprs	A	G	17: 56,424,256 (GRCm38)	L1050P	possibly damaging	Het
Rcc1	A	C	4: 132,337,799 (GRCm38)	S138A	probably damaging	Het
Rimbp3	G	T	16: 17,213,201 (GRCm38)	R1496S	possibly damaging	Het
Sacs	T	C	14: 61,191,605 (GRCm38)	V371A	probably benign	Het
Sfxn4	A	G	19: 60,842,204 (GRCm38)	L260P	possibly damaging	Het
Slc17a1	G	A	13: 23,878,483 (GRCm38)	S211N	possibly damaging	Het
Slc39a11	C	T	11: 113,562,092 (GRCm38)	V8M	probably damaging	Het
Smpd2	A	G	10: 41,489,016 (GRCm38)	I78T	probably benign	Het
Steap3	A	C	1: 120,241,518 (GRCm38)	F350V	probably benign	Het
Syt17	A	T	7: 118,381,884 (GRCm38)	V462E	probably damaging	Het
Tlr11	T	A	14: 50,361,344 (GRCm38)	D262E	probably benign	Het
Tnfrsf9	T	C	4: 150,929,874 (GRCm38)	V10A	probably benign	Het
Trpv3	C	A	11: 73,277,974 (GRCm38)	Q87K	probably benign	Het
Ugt1a5	T	C	1: 88,166,559 (GRCm38)	Y170H	probably benign	Het
Urb1	A	G	16: 90,787,408 (GRCm38)	L562P	probably damaging	Het
Usp3	G	T	9: 66,530,255 (GRCm38)	N299K	probably benign	Het
Vmn1r83	T	C	7: 12,321,629 (GRCm38)	Y167C	probably damaging	Het
Vmn2r117	T	A	17: 23,475,565 (GRCm38)	Y436F	probably benign	Het
Vps13d	A	G	4: 145,128,411 (GRCm38)	I2220T		Het
Zfp936	T	A	7: 43,187,261 (GRCm38)	V32D	probably damaging	Het
Znrd1	T	A	17: 36,957,844 (GRCm38)	L75F	probably benign	Het
Zswim2	A	G	2: 83,920,719 (GRCm38)	C259R	probably damaging	Het

Other mutations in Acadm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Acadm	APN	3	153,941,970 (GRCm38)	missense	probably damaging	1.00
IGL02598:Acadm	APN	3	153,938,544 (GRCm38)	splice site	probably benign
IGL02642:Acadm	APN	3	153,939,083 (GRCm38)	missense	probably damaging	1.00
R0092:Acadm	UTSW	3	153,941,875 (GRCm38)	splice site	probably benign
R0270:Acadm	UTSW	3	153,936,324 (GRCm38)	missense	possibly damaging	0.89
R1543:Acadm	UTSW	3	153,929,572 (GRCm38)	missense	probably damaging	1.00
R1868:Acadm	UTSW	3	153,930,252 (GRCm38)	missense	probably benign	0.03
R1955:Acadm	UTSW	3	153,929,551 (GRCm38)	missense	probably damaging	0.97
R2281:Acadm	UTSW	3	153,933,043 (GRCm38)	missense	possibly damaging	0.75
R3774:Acadm	UTSW	3	153,933,097 (GRCm38)	missense	probably benign
R4768:Acadm	UTSW	3	153,922,942 (GRCm38)	missense	probably benign	0.00
R4994:Acadm	UTSW	3	153,929,584 (GRCm38)	missense	probably damaging	1.00
R5194:Acadm	UTSW	3	153,933,118 (GRCm38)	missense	possibly damaging	0.63
R5523:Acadm	UTSW	3	153,938,636 (GRCm38)	missense	probably benign	0.13
R5927:Acadm	UTSW	3	153,939,108 (GRCm38)	missense	probably damaging	1.00
R6109:Acadm	UTSW	3	153,941,943 (GRCm38)	missense	probably damaging	1.00
R6223:Acadm	UTSW	3	153,938,549 (GRCm38)	splice site	probably null
R6896:Acadm	UTSW	3	153,936,320 (GRCm38)	missense	probably damaging	0.99
R7108:Acadm	UTSW	3	153,925,800 (GRCm38)	nonsense	probably null
R7182:Acadm	UTSW	3	153,941,881 (GRCm38)	critical splice donor site	probably null
R7334:Acadm	UTSW	3	153,939,061 (GRCm38)	nonsense	probably null
R7882:Acadm	UTSW	3	153,938,613 (GRCm38)	nonsense	probably null
R8170:Acadm	UTSW	3	153,944,398 (GRCm38)	missense	possibly damaging	0.93
R8405:Acadm	UTSW	3	153,929,528 (GRCm38)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAAACTCGTCTTTGATCTCA -3'
(R):5'- GCCTGCCTTCTAATTTTGCAA -3'

Sequencing Primer
(F):5'- CATTTCCTTGGGAAGACAGTAAAGCC -3'
(R):5'- TACTAGTGTGTAATGCTATGTA -3'

Posted On

2019-10-07